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208 related items for PubMed ID: 24179174
1. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown. Saillour Y, Broix L, Bruel-Jungerman E, Lebrun N, Muraca G, Rucci J, Poirier K, Belvindrah R, Francis F, Chelly J. Hum Mol Genet; 2014 Mar 15; 23(6):1516-26. PubMed ID: 24179174 [Abstract] [Full Text] [Related]
2. Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Poirier K, Saillour Y, Bahi-Buisson N, Jaglin XH, Fallet-Bianco C, Nabbout R, Castelnau-Ptakhine L, Roubertie A, Attie-Bitach T, Desguerre I, Genevieve D, Barnerias C, Keren B, Lebrun N, Boddaert N, Encha-Razavi F, Chelly J. Hum Mol Genet; 2010 Nov 15; 19(22):4462-73. PubMed ID: 20829227 [Abstract] [Full Text] [Related]
3. The wide spectrum of tubulinopathies: what are the key features for the diagnosis? Bahi-Buisson N, Poirier K, Fourniol F, Saillour Y, Valence S, Lebrun N, Hully M, Bianco CF, Boddaert N, Elie C, Lascelles K, Souville I, LIS-Tubulinopathies Consortium, Beldjord C, Chelly J. Brain; 2014 Jun 15; 137(Pt 6):1676-700. PubMed ID: 24860126 [Abstract] [Full Text] [Related]
6. Tubulin genes and malformations of cortical development. Romaniello R, Arrigoni F, Fry AE, Bassi MT, Rees MI, Borgatti R, Pilz DT, Cushion TD. Eur J Med Genet; 2018 Dec 15; 61(12):744-754. PubMed ID: 30016746 [Abstract] [Full Text] [Related]
7. A novel TUBB3 mutation in a sporadic patient with asymmetric cortical dysplasia. Shimojima K, Okamoto N, Yamamoto T. Am J Med Genet A; 2016 Apr 15; 170A(4):1076-9. PubMed ID: 26739025 [Abstract] [Full Text] [Related]
8. Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly. Poirier K, Lebrun N, Broix L, Tian G, Saillour Y, Boscheron C, Parrini E, Valence S, Pierre BS, Oger M, Lacombe D, Geneviève D, Fontana E, Darra F, Cances C, Barth M, Bonneau D, Bernadina BD, N'guyen S, Gitiaux C, Parent P, des Portes V, Pedespan JM, Legrez V, Castelnau-Ptakine L, Nitschke P, Hieu T, Masson C, Zelenika D, Andrieux A, Francis F, Guerrini R, Cowan NJ, Bahi-Buisson N, Chelly J. Nat Genet; 2013 Jun 15; 45(6):639-47. PubMed ID: 23603762 [Abstract] [Full Text] [Related]
13. Two unique TUBB3 mutations cause both CFEOM3 and malformations of cortical development. Whitman MC, Andrews C, Chan WM, Tischfield MA, Stasheff SF, Brancati F, Ortiz-Gonzalez X, Nuovo S, Garaci F, MacKinnon SE, Hunter DG, Grant PE, Engle EC. Am J Med Genet A; 2016 Feb 15; 170A(2):297-305. PubMed ID: 26639658 [Abstract] [Full Text] [Related]